Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
1981 2
1982 1
1983 1
1988 3
1990 3
1991 1
1992 4
1993 3
1994 2
1995 2
1996 4
1997 3
1998 3
1999 2
2000 3
2001 3
2002 2
2003 3
2004 1
2005 2
2006 1
2007 3
2008 2
2009 1
2010 3
2011 2
2012 4
2013 4
2015 2
2016 1
2018 3
2019 2
2023 2
2024 1
2025 7

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

82 results

Results by year

Filters applied: . Clear all
Page 1
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Kobren SN, et al. Nat Commun. 2025 Aug 7;16(1):7267. doi: 10.1038/s41467-025-61712-2. Nat Commun. 2025. PMID: 40770127 Free PMC article.
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R. Dore R, et al. Genet Med. 2025 Sep;27(9):101506. doi: 10.1016/j.gim.2025.101506. Epub 2025 Jun 23. Genet Med. 2025. PMID: 40576023 Free PMC article.
Yeast retrotransposons.
Sandmeyer SB. Sandmeyer SB. Curr Opin Genet Dev. 1992 Oct;2(5):705-11. doi: 10.1016/s0959-437x(05)80130-3. Curr Opin Genet Dev. 1992. PMID: 1333855 Free article. Review.
Integration by design.
Sandmeyer S. Sandmeyer S. Proc Natl Acad Sci U S A. 2003 May 13;100(10):5586-8. doi: 10.1073/pnas.1031802100. Epub 2003 May 5. Proc Natl Acad Sci U S A. 2003. PMID: 12732725 Free PMC article. Review. No abstract available.
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.
Fazal S, Dashnow H, Dohrn MF, Raposo J, Hiatt L, Danzi MC, Xu IRL, Toro C, Adams DR, Usdin K, Hayward B, Kobren SN, Sunyaev SR, Spillmann RC, Shashi V, Rebelo A, Bademci G; Undiagnosed Diseases Network; Tekin M, Quinlan AR, Zuchner S. Fazal S, et al. Genet Med. 2025 Aug;27(8):101462. doi: 10.1016/j.gim.2025.101462. Epub 2025 May 22. Genet Med. 2025. PMID: 40417743
Ty3, a Position-specific Retrotransposon in Budding Yeast.
Sandmeyer S, Patterson K, Bilanchone V. Sandmeyer S, et al. Microbiol Spectr. 2015 Apr;3(2):MDNA3-0057-2014. doi: 10.1128/microbiolspec.MDNA3-0057-2014. Microbiol Spectr. 2015. PMID: 26104707 Free article. Review.
Function of a retrotransposon nucleocapsid protein.
Sandmeyer SB, Clemens KA. Sandmeyer SB, et al. RNA Biol. 2010 Nov-Dec;7(6):642-54. doi: 10.4161/rna.7.6.14117. Epub 2010 Nov 1. RNA Biol. 2010. PMID: 21189452 Free PMC article. Review.
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2025 Apr;197(4):e63956. doi: 10.1002/ajmg.a.63956. Epub 2024 Dec 4. Am J Med Genet A. 2025. PMID: 39629753 Free PMC article.
Neutralizing Monoclonal Antibody Use and COVID-19 Infection Outcomes.
Ambrose N, Amin A, Anderson B, Barrera-Oro J, Bertagnolli M, Campion F, Chow D, Danan R, D'Arinzo L, Drews A, Erlandson K, Fitzgerald K, Garcia M, Gaspar FW, Gong C, Hanna G, Jones S, Lopansri B, Musser J, O'Horo J, Piantadosi S, Pritt B, Razonable RR, Roberts S, Sandmeyer S, Stein D, Vahidy F, Webb B, Yttri J. Ambrose N, et al. Among authors: sandmeyer s. JAMA Netw Open. 2023 Apr 3;6(4):e239694. doi: 10.1001/jamanetworkopen.2023.9694. JAMA Netw Open. 2023. PMID: 37093599 Free PMC article.
82 results